R7E (p.Arg7Glu) variant of RB1 (P06400)
R7E (p.Arg7Glu) in RB1 (P06400) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R7E (p.Arg7Glu) variant details
- p.Arg7Glu
- rs1131690852
- gnomAD 13-48303925-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 22.50
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available